ClinVar Miner

Variants studied for conotruncal heart malformations

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
56 24 276 101 19 1 2 470

Gene and significance breakdown #

Total genes and gene combinations: 31
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
JAG1 14 6 138 58 10 0 0 226
NKX2-6 2 4 48 27 4 0 0 82
NKX2-5 5 3 36 5 1 0 0 47
TBX1 3 3 17 5 0 0 2 30
GATA6 6 1 11 3 1 0 0 21
GATA4 4 0 14 1 1 0 0 18
ZFPM2 5 0 2 1 1 0 0 9
LOC126860469, ZFPM2 1 0 3 1 0 0 0 5
MT-CO1 4 1 0 0 0 0 0 5
MT-CO3 3 0 0 0 0 0 0 3
ROBO1 0 3 0 0 0 0 0 3
CERS1, GDF1 2 0 0 0 0 0 0 2
​intergenic 0 0 1 0 0 0 0 1
ACTN2 0 0 1 0 0 0 0 1
AGPAT5, ANGPT2, ARHGEF10, CLN8, CSMD1, DEFA1, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, DLGAP2, ERICH1, FBXO25, KBTBD11, MCPH1, MYOM2, SPAG11A, SPAG11B, TDRP, USP17L1, USP17L4, XKR5, ZNF596, ZNF705B, ZNF705G 1 0 0 0 0 0 0 1
BIN3, BMP1, C8orf58, CCAR2, CHMP7, DMTN, EGR3, ENTPD4, FGF17, FHIP2B, HR, LGI3, LOXL2, MIR320A, NKX2-6, NKX3-1, NUDT18, PDLIM2, PEBP4, PHYHIP, PIWIL2, POLR3D, PPP3CC, R3HCC1, REEP4, RHOBTB2, SFTPC, SLC25A37, SLC39A14, SORBS3, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D 0 0 1 0 0 0 0 1
BLK, C8orf74, CLDN23, CTSB, ERI1, FAM167A, FDFT1, GATA4, MFHAS1, MIR124-1, MSRA, MTMR9, NEIL2, PINX1, PPP1R3B, PRSS51, PRSS55, RP1L1, SLC35G5, SOX7, TNKS, XKR6 1 0 0 0 0 0 0 1
BMP7 0 0 0 0 1 0 0 1
CRELD1 0 0 1 0 0 0 0 1
EPHB4 0 1 0 0 0 0 0 1
FLNC 1 0 0 0 0 0 0 1
FOXP1 0 0 0 0 0 1 0 1
IRX4 0 0 1 0 0 0 0 1
KDR 0 1 0 0 0 0 0 1
LIMS3, LIMS4, MALL, NPHP1, RGPD5, RGPD6 0 0 1 0 0 0 0 1
MT-CO2 1 0 0 0 0 0 0 1
MYCN 0 0 1 0 0 0 0 1
NIPBL 1 0 0 0 0 0 0 1
NOTCH1 1 0 0 0 0 0 0 1
RET 1 0 0 0 0 0 0 1
TPM1 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Fulgent Genetics, Fulgent Genetics 6 7 187 70 6 0 0 276
Labcorp Genetics (formerly Invitae), Labcorp 0 0 47 27 4 0 0 78
OMIM 26 0 1 0 0 0 0 27
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 0 7 0 0 0 0 11
Baylor Genetics 3 1 6 0 0 0 0 10
Molecular Biology Laboratory, University of Basrah 8 1 0 0 0 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 0 0 0 7
Genome-Nilou Lab 0 0 0 0 6 0 0 6
Revvity Omics, Revvity 0 2 3 0 0 0 0 5
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 4 0 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 2 1 0 0 0 4
New York Genome Center 0 0 4 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 3 0 0 0 0 0 3
3billion, Medical Genetics 0 0 0 3 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 0 2
Andelfinger Lab, Centre de Recherche, CHU Sainte Justine 1 1 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 0 1 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 2 2
Genetic Services Laboratory, University of Chicago 0 0 0 0 1 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 0 1
Garg Lab, Nationwide Children's Hospital 0 0 0 0 0 1 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 0 1
Cytogenetics- Mohapatra Lab, Banaras Hindu University 0 0 0 0 1 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 0 1
Laboratory of Research in Genomics, Genetics and Bioinformatics, Hospital Infantil de Mexico Federico Gomez 0 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 1 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 1
Dept of Reproduction and Endocrinology, The Sixth Affiliated Hospital of Sun Yat-sen University 1 0 0 0 0 0 0 1
Cytogenetics, Genetics Associates, Inc. 0 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 1

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